Canonical Allele Identifier: CA2340622563

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862042_49862043delinsAC , CM000681.2:g.49862042_49862043delinsAC	GRCh38
NC_000019.9:g.50365299_50365300delinsAC , CM000681.1:g.50365299_50365300delinsAC	GRCh37
NC_000019.8:g.55057111_55057112delinsAC	NCBI36
NG_027717.1:g.10523_10524delinsGT
NG_050666.1:g.18199_18200delinsAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.1188+1_1188+2delinsGT MANE Select	ENSP00000323511.2:n.1188+1_1188+2delinsGT...
ENST00000322344.7:c.1188+1_1188+2delinsGT	ENSP00000323511.2:n.1188+1_1188+2delinsGT...
ENST00000593706.3:n.623_624delinsGT
ENST00000593946.5:c.*1115+1_*1115+2delinsGT	ENSP00000468896.1:n.*1115+1_*1115+2delins...
ENST00000594661.5:n.1689+1_1689+2delinsGT
ENST00000596014.5:c.1188+1_1188+2delinsGT	ENSP00000472300.1:n.1188+1_1188+2delinsGT...
ENST00000599454.5:n.32+1_32+2delinsGT
ENST00000600573.5:c.1095+1_1095+2delinsGT	ENSP00000469826.1:n.1095+1_1095+2delinsGT...
ENST00000600910.5:c.1188+1_1188+2delinsGT	ENSP00000473137.1:n.1188+1_1188+2delinsGT...
ENST00000601816.3:n.87+1_87+2delinsGT
ENST00000625216.2:c.269+1_269+2delinsGT	ENSP00000486898.1:n.269+1_269+2delinsGT
ENST00000627232.2:c.1108+1_1108+2delinsGT	ENSP00000486037.1:n.1108+1_1108+2delinsGT...
ENST00000631020.2:c.1080+1_1080+2delinsGT	ENSP00000486707.1:n.1080+1_1080+2delinsGT...
NM_007254.3:c.1188+1_1188+2delinsGT	NP_009185.2:n.1188+1_1188+2delinsGT
NM_007254.4:c.1188+1_1188+2delinsGT MANE Select	NP_009185.2:n.1188+1_1188+2delinsGT